Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613086 (trait) , 602091 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0013122: glaucoma 3, primary congenital, D

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2016

Mapping: As reported by Kuehn et al. (2016): "Using a candidate gene approach, significant linkage was established on cat chromosome B3 (LOD 18.38, θ = 0.00) using tightly linked short tandem repeat (STR) loci to the candidate gene, LTBP2."

Molecular basis: Kuehn et al. (2016): "A 4 base-pair insertion was identified in exon 8 [at chrB3: 120995236] of LTBP2 in affected individuals that generates a frame shift that completely alters the downstream open reading frame and eliminates functional domains".

Clinical features: Kuehn et al. (2016): "Elevated intraocular pressure, globe enlargement and elongated ciliary processes were consistently observed in all affected cats by 8 weeks of age. Varying degrees of optic nerve damage resulted by 6 months of age. Although subtle lens zonular instability was a common feature in this cohort, pronounced ectopia lentis was identified in less than 10% of cats examined."

Pathology: Kuehn et al. (2016): "glaucoma in this pedigree is attributed to histologically confirmed arrest in the early post-natal development of the aqueous humor outflow pathways in the anterior segment of the eyes of affected animals."

Breed: Siamese (Cat) (VBO_0100221).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: